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Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene

 
  August, 16 2006 10:54
your information resource in human molecular genetics
 
     
Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States.

The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Infantile, childhood, and classic forms of NNH have been described in a paper published by Karadimas et al, in the American Journal of Human Genetics (Vol. 79, pp.544-548),

Contact:

Michio Harano
Department of Neurology, Columbia University Medical Center, New York.

Table of Contents of Volume 79 (No. 3) with links to Abstracts: TOC.

(C) American Journal of Human Genetics.

Posted by: Tressie Dalaya


Message posted by: Trevor M. D'Souza

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